Results 241 to 250 of about 118,231 (380)

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

High-resolution genome assembly reveals retrotransposon-mediated centromere dynamics in rye. [PDF]

Genome Biol
Yi C, Liu Q, Zhu C, Liu C, Zhou C, He W, Wang C, Yuan J, Liu Y, Han F.   +9 more
europepmc   +1 more source

Location of Centromere and Interchange Breakpoints in the Pachytene Chromosome of Rice. : Genetical studies on rice plant, LXXI.

, 1980
Shigetoshi SATO, Toshiro KlNOSHITA, Man-emon Takahashi   +2 more
openalex   +2 more sources

Budding yeast centromere composition and assembly as revealed by in vivo cross-linking [PDF]

, 1997
Pamela B. Meluh, Douglas Koshland
openalex   +1 more source

A CRISPR‐Cas9‐based system for the dose‐dependent study of DNA double‐strand break sensing and repair

The FEBS Journal, EarlyView.
Using CRISPR‐Cas9, we engineered a genetic system allowing the dose‐dependent induction of a controllable number of DNA double‐strand breaks in Saccharomyces cerevisiae. The tool was used to study the kinetics of DNA break sensing and repair, including the spatial distribution of Tel1ATM kinase, which initiates the DNA damage response.
Morgane Auboiron, Jocelyn Coiffard, Sylvain Kumanski, Olivier Santt, Benjamin Pardo, María Moriel‐Carretero   +5 more
wiley   +1 more source

The Drosophila mauritiana synaptonemal complex protein C(3)G repatterns the recombination landscape of Drosophila melanogaster. [PDF]

PLoS Genet
Hughes SE, Staber C, McKown G, Yu Z, Blumenstiel JP, Hawley RS.   +5 more
europepmc   +1 more source

Targeted disruption of mouse centromere protein C gene leads to mitotic disarray and early embryo death [PDF]

, 1998
Paul Kalitsis, Kerry J. Fowler, Elizabeth D. Earle, Joanne Hill, K. H. Andy Choo   +4 more
openalex   +1 more source

Multi‐omic analysis identifies biological processes underlying progressive interstitial lung disease in systemic sclerosis

The FEBS Journal, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease, and lung complications (ILD) are the main cause of death. This study compared SSc patients with and without lung disease to healthy volunteers. We found increased inflammation, specific proteins, and higher triglyceride levels linked to lung disease progression. These findings suggest triglycerides
Selena Bouffette, Perrine Soret, Alice Cole, Emmanuel Nony, Pierre Barbier Saint Hilaire, Grégory Leclerc, Lamine Alaoui, Audrey Aussy, Isabelle Wehrle, Aude Le Gall, Mark Coulon, Marc Pallardy, Voon Ong, Jeanne Allinne, Philippe Moingeon, David Abraham, Christopher P. Denton   +16 more
wiley   +1 more source

Centromeres drive and take a break. [PDF]

Chromosome Res
Talbert PB, Henikoff S.
europepmc   +1 more source

High‐throughput screening identifies a previously undescribed checkpoint controlling mitotic progression in response to DNA damage

The FEBS Journal, EarlyView.
DNA damage can cause mitotic delay to allow DNA repair to occur. However, the mechanism underlying this is unclear. Here, we show that in response to cells entering mitosis with DNA damage, SOD1 restrains PP2a activity via oxidation of cysteine residues at the active site. This leads to a reduction in PP2a activity at the mitotic kinetochore, resulting
Nan Li, Rachel Gatenby, Thomas Walne, Caroline Daye, Steven Watson, Priya Lata, Stephen Brown, Ruth Thompson   +7 more
wiley   +1 more source